Advice on Limb-Girdle MD, Cardiac, Respiratory, & Distress

Posted by tn2025nash @tn2025nash, Dec 29, 2024

I’m seeking guidance from doctors or health professionals who can take a whole-body approach to my health situation. I have limb-girdle muscular dystrophy type 2D, which affects both skeletal and cardiac muscles. Over the past year, I’ve experienced several significant changes in my health, and I’m looking for insights into potential root causes and how to integrate care across specialties.
Details:
1. Muscular Dystrophy:
• Diagnosed with LGMD2D, which has known impacts on both skeletal and cardiac muscles.
2. Cardiac Concerns:
• My BNP level is currently 800 (down from 1000 five weeks ago), indicating heart strain. Tested both times within 7 days of respiratory distress
• Elevated creatine kinase (CK) earlier this year.
3. Respiratory Issues:
• Hospitalized for pneumonia five weeks ago and started antibiotics again this past week for recurrent symptoms.
• I’ve experienced two episodes of respiratory distress in the last five weeks.
4. Digestive Symptoms:
• For the past 5-6 months, I’ve had daily foamy burps, throat pressure, and repetitive regurgitation of foam.
5. Dietary and Lifestyle Changes:
• On the carnivore diet for over a year, with high salt intake (bad habits).
• For the first time in my life, I now have high LDL cholesterol.
6. Hormone and Supplement Use:
• Started weekly testosterone injections nine months ago due to low testosterone.
• Take 50,000 IU of vitamin D weekly.
7. Immune Changes:
• Historically healthy with rare illnesses, but I now catch colds almost every time my 6-year-old son gets sick at school.

What I’m Looking For:

I’m hoping to understand how these factors might be interconnected and identify root causes rather than managing symptoms in isolation. I’m under the care of a cardiologist and pulmonologist but would appreciate input from professionals who can look at the whole picture.

Any insights into the relationship between my muscular dystrophy, cardiac strain, respiratory issues, digestive symptoms, diet, and hormone use would be incredibly helpful. Suggestions for next steps, labs to request, or lifestyle adjustments would also be greatly appreciated.

Thank you for taking the time to read this!

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@tn2025nash Welcome to Mayo Connect.
With your complex list of symptoms, I think you might want a multidisciplinary approach to your care. Mayo has such a group -
https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/doctors-departments/ddc-20375395
The beauty of this sort of environment is that other specialists such as cardiology can be called in to collaborate as needed. You can contact them here:
http://mayocl.in/1mtmR63
If Mayo is not an option for you, you can look here for other MD Centers of Excellence:
https://www.mda.org/care/care-center-list

REPLY

@tn2025nash
You will make an excellent patient, with your clear, well documented concerns.
I agree with Sue, you need a multi-disciplinary approach, where doctors of all your issues actually talk to each other to formulate a comprehensive approach.
You have in the US, a wonderful advantage in your health care --- you have Mayo Clinics. Please follow up with them as they do seem to use this multi-disciplinary approach - so needed for those of us with 'complex cases'.
Please let us know how you get on. You have made the first great step in contacting Connect.
All the best to you.

REPLY

I presume you’ve got a support group, people, etc. and are connected to an MDA care center as an adult. Here is a resource for the nationwide care centers and programs since you may not be located near a Mayo offering this. Good luck.
https://www.mda.org/care/care-center-list

REPLY
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